ESPE Abstracts

Introduction: Microarray (SNP array) method offers a powerful full genome scanning opportunity in the diagnosis of disorders of sex development (DSD).Aim and Method: We aimed to determine the copy number variations (CNVs) by using the microarray method to elucidate the molecular etiology in DSD patients. The variants found were scored according to the American College of Medical Genetics and Genomics criteria.<p clas...

Gender uncertainty is stressful condition for children and their families. Gender assignment in children with disorder of sex development (DSD) is considered as a medical emergency. Influencing factors to consider when debating gender assignment include medical diagnosis, external genital appearance, potential of fertility and sexual, therapeutic and/or surgical intervention options, views and desires of patients and families, situation of social-cultural factors, the psycholo...

Introduction: Various types of mutations in GHRHR cause isolated growth hormone deficiency type 1B. Here, we report the clinical features associated with deletion of whole GHRHR gene for the first time.Case: A four-year–and-nine-month-old otherwise healthy girl was admitted due to short stature. She was born at term with a birthweight of 3750 gr. Her height velocity slowed down after 2 years of age. The mother (157.8 cm, −0.8...

Introduction: Proopiomelanocortin (POMC) deficiency is a rare disease characterized by central adrenal insufficiency, early-onset obesity, red hair, and impaired skin pigmentation. This disease is caused by mutations of POMC that is localized in 2p23.3. Here, we aimed to present a case with central adrenal insufficiency, red hair, and rapid weight gain and who was detected frameshift mutation in the POMC.Case</s...

Background: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. 21-hydroxylase enzyme deficiency (21-OHD) occurs in 90–95% of all cases of CAH. Despite it being a treatable condition, if unrecognized, CAH may present with life-threatening cardiovascular collapse. Mortality in the first years is reported to be higher than in the general population. Neonatal screening for CAH is effective in detecting the salt-wasting f...

Background: Congenital hyperinsulinism (CHI) is the most common cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy, and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous.Objective and hypotheses: To describe the clinical characteristics, analyse the genotype–phenotype correlations and describe the treatment outcome of Turkish CHI patients.Method:...

Background: No large study comparing efficiency of prednisolone, alendronate and pamidronate has been conducted so far in children with hypercalcemia due to vitamin D intoxication.Objective and hypotheses: To perform a multicentre, retrospective study assessing clinical characteristics and treatment results.Method: A standard questionnaire was uploaded to an online national database system (www.favorsci.org) to collect data of chil...

Introduction: 11-beta hydroxylase deficiency(11β-OHaseD) is the second frequent congenital adrenal hyperplasia(CAH) form. This study aimed to determine demographic and genetic characteristics and final height, to evaluate the long term clinical follow-up of children&/adolescents with 11β-OHaseD.Material and Methods: The study is designed as a multicenter, national, retrospective. 60 cases from 11 Pediatric ...

Introduction: Homozygous leptin (LEP) and leptin receptor (LEPR) mutations lead to childhood-onset obesity due to deficient leptin signaling. The specific aims of this work are to explore genotype/phenotype correlations in a national multicenter cohort of 18 subjects with leptin (LEP) and leptin receptor (LEPR) deficiency, report on the long-term clinical follow-up of these rare cases, and systematically review all patients with pathogenic <e...

Introduction: Treatment adherence is crucial for the success of Growth Hormone (GH) therapy. Non-adherence rates have varied over a wide range from 5% to 80% in the literature. Several factors may have an impact on treatment adherence. Besides, with the COVID-19 pandemic that affected the whole world, there were problems with the hospital admission and routine controls of the patients who used GH treatment.Objective: The...